Here, we describe a new patient with severe developmental delay, epileptic encephalopathy, spastic tetraparesis, cataracts, and several dysmorphic features, harboring the novel homozygous missense variant NM_014762.4:c.506T>C, NP_055577.1:p.M169T in the DHCR24 gene. The gene discussed is DHCR24; the disease is Epileptic encephalopathy.